{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:21Z","timestamp":1756339521433,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,7,14]]},"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>Malignant gastrointestinal neuroectodermal tumour (GNET) is a rare, aggressive neoplasm with fewer than 100 cases reported in the literature. Most cases arise in the tubular gastrointestinal tract. We reported a unique case of GNET arising in the extrahepatic bile ducts and reviewed the literature of GNETs. The patient is a female in her mid-30s who presented with painless jaundice and diarrhoea several months after cholecystectomy for biliary dyskinesia. Workup revealed a tumour arising from the peripheral 4B bile ducts involving the left hepatic duct and bifurcation. Histologic examination of the lesion showed a malignant spindled and epithelioid neoplasm which strongly expressed S100 and SOX-10. Neoplastic cells were negative for various cytokeratins and melanoma markers. FISH testing using <jats:italic>EWSR1<\/jats:italic> break-apart probes showed rearrangement of the <jats:italic>EWSR1<\/jats:italic> gene region. The immunohistochemical and molecular findings are consistent with a diagnosis of GNET arising in the extrahepatic bile ducts.<\/jats:p>","DOI":"10.1136\/bcr-2022-250094","type":"journal-article","created":{"date-parts":[[2022,7,20]],"date-time":"2022-07-20T11:15:15Z","timestamp":1658315715000},"page":"e250094","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Malignant gastrointestinal neuroectodermal tumour arising in the extrahepatic bile ducts; a rare neoplasm in an unusual anatomic location"],"prefix":"10.1136","volume":"15","author":[{"given":"C Quinn","family":"Miller","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad","family":"Al-Hader","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology\/Oncology, Indiana University School of Medicine, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail H","family":"Vance","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,7,20]]},"reference":[{"key":"2025082708470016000_15.7.e250094.1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31824644ac"},{"key":"2025082708470016000_15.7.e250094.2","doi-asserted-by":"crossref","first-page":"9731","DOI":"10.2147\/OTT.S275633","article-title":"Malignant gastrointestinal neuroectodermal tumors: clinicopathological and prognostic features of 96 patients","volume":"13","author":"Li","year":"2020","journal-title":"Onco Targets Ther"},{"key":"2025082708470016000_15.7.e250094.3","first-page":"1479","article-title":"Clear cell Sarcoma-like tumor of the gastrointestinal tract: clinical outcome and pathologic features of a molecularly characterized tertiary center case series","volume":"38","author":"Libertini","year":"2018","journal-title":"Anticancer Res"},{"key":"2025082708470016000_15.7.e250094.4","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.pathol.2018.05.001","article-title":"Clear cell sarcoma of the gastrointestinal tract and malignant gastrointestinal neuroectodermal tumour: distinct or related entities? A review","volume":"50","author":"Green","year":"2018","journal-title":"Pathology"},{"key":"2025082708470016000_15.7.e250094.5","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/j.pathol.2018.07.002","article-title":"Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma","volume":"50","author":"Allanson","year":"2018","journal-title":"Pathology"},{"key":"2025082708470016000_15.7.e250094.6","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1007\/s00428-020-02933-2","article-title":"Clear cell sarcoma-like\/malignant gastrointestinal neuroectodermal tumor of the tongue: a clinicopathologic and molecular case report","volume":"478","author":"Sbaraglia","year":"2021","journal-title":"Virchows Arch"},{"key":"2025082708470016000_15.7.e250094.7","doi-asserted-by":"crossref","first-page":"5739","DOI":"10.3748\/wjg.v21.i18.5739","article-title":"Esophageal subepithelial lesion diagnosed as malignant gastrointestinal neuroectodermal tumor","volume":"21","author":"Kim","year":"2015","journal-title":"World J Gastroenterol"},{"key":"2025082708470016000_15.7.e250094.8","doi-asserted-by":"crossref","first-page":"E130","DOI":"10.1002\/dc.24624","article-title":"Fine needle aspiration cytology of malignant digestive system gastrointestinal neuroectodermal tumor in a lymph node metastasis from a previously diagnosed liver primary: a case report and review of literature","volume":"49","author":"Gadde","year":"2021","journal-title":"Diagn Cytopathol"},{"key":"2025082708470016000_15.7.e250094.9","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31814b18fb"},{"key":"2025082708470016000_15.7.e250094.10","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1097\/PAS.0000000000001242","article-title":"Recurrent SMARCB1 inactivation in epithelioid malignant peripheral nerve sheath tumors","volume":"43","author":"Schaefer","year":"2019","journal-title":"Am J Surg Pathol"},{"key":"2025082708470016000_15.7.e250094.11","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1159\/000449204","article-title":"Activity of c-Met\/ALK inhibitor crizotinib and multi-kinase VEGF inhibitor pazopanib in metastatic gastrointestinal neuroectodermal tumor harboring EWSR1-CREB1 fusion","volume":"91","author":"Subbiah","year":"2016","journal-title":"Oncology"},{"key":"2025082708470016000_15.7.e250094.12","first-page":"1","article-title":"Malignant gastrointestinal neuroectodermal tumor (GNET) with prolonged disease-free survival after platinum-based chemotherapy","volume":"2020","author":"Singh","year":"2020","journal-title":"Case Rep Oncol Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:47:09Z","timestamp":1756309629000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":12,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7,20]]},"published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1136\/bcr-2022-250094"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250094","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,7]]}}}